Linked Data
ClinVar Variation Id:
500623
dbSNP Id:
rs370908118
ExAC:
2:179434377 G / A
gnomAD v2:
2-179434377-G-A
gnomAD v3:
2-178569650-G-A
gnomAD v4:
2-178569650-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569650G>A , CM000664.2:g.178569650G>A | GRCh38 |
| NC_000002.11:g.179434377G>A , CM000664.1:g.179434377G>A | GRCh37 |
| NC_000002.10:g.179142623G>A | NCBI36 |
| NG_011618.3:g.266153C>T , LRG_391:g.266153C>T | |
| NG_051363.1:g.51824G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68778C>T (TTN) | ENSP00000343764.6:p.Asp22926= | |
| ENST00000342175.11:c.49863C>T (TTN) | ENSP00000340554.6:p.Asp16621= | |
| ENST00000359218.10:c.49662C>T (TTN) | ENSP00000352154.5:p.Asp16554= | |
| ENST00000342175.10:c.49863C>T (TTN) | ENSP00000340554.6:p.Asp16621= | |
| ENST00000342992.10:c.68778C>T (TTN) | ENSP00000343764.6:p.Asp22926= | |
| ENST00000359218.9:c.49662C>T (TTN) | ENSP00000352154.5:p.Asp16554= | |
| ENST00000460472.6:c.49287C>T (TTN) | ENSP00000434586.1:p.Asp16429= | |
| ENST00000589042.5:c.76482C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp25494= | |
| ENST00000591111.5:c.71559C>T (TTN) | ENSP00000465570.1:p.Asp23853= | |
| ENST00000615779.4:c.71559C>T (TTN) | ENSP00000483597.1:p.Asp23853= | |
| NM_001256850.1:c.71559C>T (TTN) | NP_001243779.1:p.Asp23853= | |
| NM_001267550.2:c.76482C>T (TTN) MANE Select | NP_001254479.2:p.Asp25494= | |
| NM_003319.4:c.49287C>T (TTN) | NP_003310.4:p.Asp16429= | |
| NM_133378.4:c.68778C>T (TTN) | NP_596869.4:p.Asp22926= | |
| NM_133432.3:c.49662C>T (TTN) | NP_597676.3:p.Asp16554= | |
| NM_133437.4:c.49863C>T (TTN) | NP_597681.4:p.Asp16621= | |
| NR_038271.1:n.447-1650G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-12922G>A (TTN-AS1) | ||
| XM_011511729.1:c.75579C>T (TTN) | XP_011510031.1:p.Asp25193= | |
| XM_011511730.1:c.49473C>T (TTN) | XP_011510032.1:p.Asp16491= | |
| XM_011511731.1:c.49332C>T (TTN) | XP_011510033.1:p.Asp16444= | |
| XM_017004819.1:c.75375C>T (TTN) | XP_016860308.1:p.Asp25125= | |
| XM_017004820.1:c.70773C>T (TTN) | XP_016860309.1:p.Asp23591= | |
| XM_017004821.1:c.70770C>T (TTN) | XP_016860310.1:p.Asp23590= | |
| XM_017004822.1:c.67812C>T (TTN) | XP_016860311.1:p.Asp22604= | |
| XM_017004823.1:c.49428C>T (TTN) | XP_016860312.1:p.Asp16476= | |
| XM_024453094.1:c.70923C>T (TTN) | XP_024308862.1:p.Asp23641= | |
| XM_024453095.1:c.70920C>T (TTN) | XP_024308863.1:p.Asp23640= | |
| XM_024453096.1:c.70353C>T (TTN) | XP_024308864.1:p.Asp23451= | |
| XM_024453097.1:c.67695C>T (TTN) | XP_024308865.1:p.Asp22565= | |
| XM_024453098.1:c.67614C>T (TTN) | XP_024308866.1:p.Asp22538= | |
| XM_024453099.1:c.49377C>T (TTN) | XP_024308867.1:p.Asp16459= | |
| XM_024453100.1:c.39231C>T (TTN) | XP_024308868.1:p.Asp13077= |